Bernhard Horsthemke

Summary

Affiliation: University of Duisburg-Essen
Country: Germany

Publications

  1. pmc The human retinoblastoma gene is imprinted
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    PLoS Genet 5:e1000790. 2009
  2. pmc The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes
    Lisa C Neumann
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Germany
    Genome Biol Evol 6:344-51. 2014
  3. doi request reprint Mechanisms of imprinting of the Prader-Willi/Angelman region
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 146:2041-52. 2008
  4. doi request reprint Mechanisms of imprint dysregulation
    Bernhard Horsthemke
    University of Duisburg Essen, Essen, Germany
    Am J Med Genet C Semin Med Genet 154:321-8. 2010
  5. doi request reprint Parental origin and functional relevance of a de novo UBE3A variant
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45147 Essen, Germany
    Eur J Med Genet 54:19-24. 2011
  6. ncbi request reprint Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
    Hülya Nazlican
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandtrasse 55, G 45122 Essen, Germany
    Hum Mol Genet 13:2547-55. 2004
  7. pmc A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:582-90. 2009
  8. ncbi request reprint C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Genomics 89:588-95. 2007
  9. doi request reprint Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
    Marcel Martin
    Genome Informatics, Faculty of Medicine, Institute of Human Genetics, University of Duisburg Essen, Essen, Germany
    Nat Genet 45:933-6. 2013
  10. pmc Low frequency of imprinting defects in ICSI children born small for gestational age
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:22-9. 2009

Detail Information

Publications58

  1. pmc The human retinoblastoma gene is imprinted
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    PLoS Genet 5:e1000790. 2009
    ..The imprinting of two components of the same pathway indicates that there has been strong evolutionary selection for maternal inhibition of cell proliferation...
  2. pmc The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes
    Lisa C Neumann
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Germany
    Genome Biol Evol 6:344-51. 2014
    ....
  3. doi request reprint Mechanisms of imprinting of the Prader-Willi/Angelman region
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 146:2041-52. 2008
    ..Imprinting defects affecting the PWS/AS region can arise from failure to demethylate the PWS-SRO in the male germ line, from failure to methylate the maternal PWS-SRO, or from failure to maintain PWS-SRO methylation after fertilization...
  4. doi request reprint Mechanisms of imprint dysregulation
    Bernhard Horsthemke
    University of Duisburg Essen, Essen, Germany
    Am J Med Genet C Semin Med Genet 154:321-8. 2010
    ..The distinction between primary and secondary imprinting defects is important for assessing the recurrence risk in affected families...
  5. doi request reprint Parental origin and functional relevance of a de novo UBE3A variant
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45147 Essen, Germany
    Eur J Med Genet 54:19-24. 2011
    ..Our study may serve as a paradigm to determine the parental origin of a de novo mutation...
  6. ncbi request reprint Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
    Hülya Nazlican
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandtrasse 55, G 45122 Essen, Germany
    Hum Mol Genet 13:2547-55. 2004
    ..In conclusion, we suggest that the role of mosaic imprinting defects in mental retardation is underestimated...
  7. pmc A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:582-90. 2009
    ..2). This patient is obese and mentally retarded, but does not have PWS. We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS...
  8. ncbi request reprint C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Genomics 89:588-95. 2007
    ..Reinvestigation of C15orf2 revealed that this gene is also expressed in fetal brain and that expression in this tissue is monoallelic. We conclude that PWRN1 and C15orf2 may play a role in PWS...
  9. doi request reprint Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
    Marcel Martin
    Genome Informatics, Faculty of Medicine, Institute of Human Genetics, University of Duisburg Essen, Essen, Germany
    Nat Genet 45:933-6. 2013
    ..Resequencing of ten uveal melanomas with disomy 3 that developed metastases identified SF3B1 mutations in three tumors, none of which targeted Arg625. ..
  10. pmc Low frequency of imprinting defects in ICSI children born small for gestational age
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:22-9. 2009
    ....
  11. doi request reprint Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mutat 29:1141-6. 2008
    ..These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster...
  12. pmc Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects
    Jasmin Beygo
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    PLoS ONE 8:e76953. 2013
    ..We conclude that the patient does not only have methylation defects at imprinted loci but (at least in blood) also an excess of methylation changes at apparently non-imprinted loci. ..
  13. ncbi request reprint Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15
    Corinna Zogel
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 14:752-8. 2006
    ..028). Our findings suggest that women with the IC haplotype H-AS3 or homozygosity for the MTHFR 677C>T variant may have an increased risk of conceiving a child with an imprinting defect, although the absolute risk is low...
  14. pmc The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
    Jasmin Beygo
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mol Genet 22:544-57. 2013
    ..Careful characterization of the IC1 microdeletions is therefore needed to predict recurrence risks and phenotypical outcomes...
  15. ncbi request reprint SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
    Maren Runte
    Institut fur Humangenetik, Universitaetsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Hum Genet 114:553-61. 2004
    ..Our findings are compatible with the assumption that imprinted UBE3A expression is regulated through the SNURF-SNRPN sense- UBE3A antisense transcript...
  16. ncbi request reprint Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
    Tobias Vollmar
    Institut fur Humangenetik, Universitat Duisburg Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Med Genet 51:44-53. 2008
    ..Geometry performs excellently with 85% for combined poses. Combination of wavelets and geometry for both poses increases accuracy to 93%. In conclusion, a larger number of syndromes can be handled effectively by means of image analysis...
  17. pmc EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation
    Lisa C Neumann
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr, 55, 45157 Essen, Germany
    BMC Cancer 11:380. 2011
    ....
  18. pmc Human PPP1R26P1 functions as cis-repressive element in mouse Rb1
    Laura Steenpass
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    PLoS ONE 8:e74159. 2013
    ..Our results identify human PPP1R26P1 as a cis-repressive element and support a connection between retrotransposition of PPP1R26P1 into human RB1 and the reduced expression of RB1 on the paternal allele. ..
  19. ncbi request reprint Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 12:2723-32. 2003
    ....
  20. pmc Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
    Michaela Wawrzik
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Eur J Hum Genet 17:1463-70. 2009
    ....
  21. ncbi request reprint Loss of heterozygosity of 1p in uveal melanomas with monosomy 3
    Thomas Häusler
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Int J Cancer 116:909-13. 2005
    ..On the basis of our data and published cytogenetic data, we propose that 1p31 harbors genes involved in the progression of uveal melanoma with monosomy 3...
  22. ncbi request reprint Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome
    Maren Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany
    Hum Genet 116:228-30. 2005
    ..However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13...
  23. doi request reprint Automated syndrome detection in a set of clinical facial photographs
    Stefan Boehringer
    Institut fur Humangenetik, Universitaetsklinikum Essen, Germany
    Am J Med Genet A 155:2161-9. 2011
    ..In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set...
  24. ncbi request reprint IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 16:328-34. 2008
    ..Furthermore, we show that methylation analysis by QAMA and MLPA is more sensitive in detecting ICR1 hypomethylation than Southern blot analysis of CTS3...
  25. ncbi request reprint Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal
    Frank J Kaiser
    Institut fur Humangenetik, Universitatsklinikum, Hufelandstr 55, Essen D 45122, Germany
    Eur J Hum Genet 12:121-6. 2004
    ..In contrast, a mutant that lacks the conserved GATA-type zinc-finger domain and most of the LRRRRG motif is able to enter the nucleus...
  26. ncbi request reprint Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
    Hum Genet 121:369-76. 2007
    ..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)...
  27. doi request reprint The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection
    Michaela Wawrzik
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Neurogenetics 11:153-61. 2010
    ..These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to PWS...
  28. doi request reprint Imprinting of RB1 (the new kid on the block)
    Karin Buiting
    Institut fur Humangenetik, D 45122 Essen, Germany
    Brief Funct Genomics 9:347-53. 2010
    ..The imprinting of two components of the same pathway indicates that there has been strong evolutionary selection for maternal inhibition of cell proliferation...
  29. pmc Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Hum Genet 72:571-7. 2003
    ..These data suggest that this imprinting defect results from a failure to erase the maternal imprint during spermatogenesis...
  30. ncbi request reprint Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
    Sven Fischer
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 15:581-7. 2006
    ..Prolonged cell culture or treatment with the histone deacetylase inhibitor Trichostatin A led to reactivation of the downregulated allele. We propose that epigenetic dysregulation of BAPX1 plays an important role in OAVS...
  31. pmc FTO levels affect RNA modification and the transcriptome
    Tea Berulava
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 21:317-23. 2013
    ..We conclude that altered levels of FTO have multiple and diverse consequences on RNA modifications and the transcriptome...
  32. doi request reprint The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein
    Lisa C Neumann
    Institut fur Humangenetik, Universitatsklinikum Essen, D 45122 Essen, Germany
    Hum Mol Genet 21:4038-48. 2012
    ..These experiments for the first time demonstrate that C15orf2 is part of the NPC or its associated molecular networks. Based on our findings, we propose 'Nuclear pore associated protein 1' as the new name for C15orf2...
  33. doi request reprint Genomic imprinting and imprinting defects in humans
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Adv Genet 61:225-46. 2008
    ..IC mutations affect the establishment or maintenance of genomic imprints and hence the expression of all imprinted genes controlled by this IC. Imprinting defects play a causal role in several recognizable syndromes...
  34. doi request reprint Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mol Genet 18:1439-48. 2009
    ..Remarkably, methylation of X-chromosomal CGIs in female blood cells was most often incomplete (25-75%). Such incomplete methylation was mainly found on the X-chromosome, suggesting that it is linked to X-chromosome inactivation...
  35. doi request reprint In brief: genomic imprinting and imprinting diseases
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Germany
    J Pathol 232:485-7. 2014
    ..Since the dosage of imprinted genes is important for normal development, growth and behaviour, the loss or duplication of the active allele can cause disease...
  36. ncbi request reprint Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation
    Sandrine Gratias
    Department of Human Genetics, University of Duisburg Essen, Essen, Germany
    Int J Cancer 116:555-63. 2005
    ..The genes on 1q with copy number gains and overexpression are candidates that need to be tested for their individual contribution to the progression of Rb...
  37. ncbi request reprint Evolutionary Origin and Methylation Status of Human Intronic CpG Islands that Are Not Present in Mouse
    Katrin Rademacher
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Genome Biol Evol 6:1579-88. 2014
    ..Our study supports the notion that the epigenetic fate of the retrotransposed DNA depends on its sequence and selective forces at the integration site. ..
  38. ncbi request reprint Syndrome identification based on 2D analysis software
    Stefan Boehringer
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 14:1082-9. 2006
    ....
  39. pmc An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
    Amla Kuechler
    Institut fur Humangenetik, Universitatsklinikum, Universitat Duisburg Essen, Essen, Germany
    Eur J Hum Genet 18:656-61. 2010
    ..This coincidence of two rare changes caused clinical signs consistent with FSH resistance...
  40. pmc The origin of the RB1 imprint
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    PLoS ONE 8:e81502. 2013
    ..We conclude that the epigenetic fate of a PPP1R26 retrocopy after integration depends on the DNA sequence and selective forces at the integration site. ..
  41. pmc Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring
    Corinna Grasemann
    Kinderklinik II, Division of Paediatric Endocrinology, UK Essen and The University of Duisburg Essen, Essen, Germany
    PLoS ONE 7:e50210. 2012
    ..We determined metabolic and skeletal phenotypes in wildtype offspring of Akita mothers and fathers...
  42. ncbi request reprint Assisted reproduction: the epigenetic perspective
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Reprod Update 11:473-82. 2005
    ..In addition, loss of epigenetic control may expose hidden genetic variation...
  43. pmc The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels
    Tea Berulava
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 18:1054-6. 2010
    ..We also observed skewed allelic expression of the RPGRIP1L gene in blood, but skewing was independent of the FTO genotype. Our data suggest that increased expression of FTO is associated with increased body mass...
  44. doi request reprint Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohort
    Sonali Pechlivanis
    Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg Essen, Essen, Germany
    Arterioscler Thromb Vasc Biol 30:1867-72. 2010
    ....
  45. ncbi request reprint The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor
    Frank J Kaiser
    Institut fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D 45122 Essen, Germany
    J Biol Chem 278:38780-5. 2003
    ..Using a luciferase reporter assay, we could demonstrate that the repressional function of TRPS1 is inhibited by RNF4. This finding suggests that RNF4 is a negative regulator of TRPS1 activity...
  46. doi request reprint Hormone-induced delayed ovulation affects early embryonic development
    Ann Kathrin Bittner
    Institute of Molecular Biology, University Hospital Essen, University Duisburg Essen, Essen, Germany
    Fertil Steril 95:2390-4. 2011
    ..To analyze the effects of delayed ovulation on embryonic development in mice, because intrafollicular oocyte development may be delayed during assisted reproductive technology (ART) treatment in humans...
  47. pmc Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential
    Anna Kosubek
    Institut für Zellbiologie Tumorforschung, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    PLoS ONE 5:e13532. 2010
    ..Based on this hypothesis the developmental consequences of downregulation of specific transcripts can be analyzed in future...
  48. ncbi request reprint Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities
    Frank Tschentscher
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Cancer Res 63:2578-84. 2003
    ..Our findings suggest that there are two distinct entities of uveal melanoma that were previously unrecognized because they are not obviously distinguishable by clinicopathological features...
  49. ncbi request reprint Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1
    Frank J Kaiser
    Institut fur Humangenetik, Universitatsklinikum, Hufelandstr 55, D 45122 Essen, Germany
    Hum Mol Genet 12:1349-58. 2003
    ..In addition, GATA-regulated reporter gene assay indicated that LC8a is able to suppress the transcriptional repression activity of TRPS1...
  50. pmc Maintenance of imprinting and nuclear architecture in cycling cells
    Kathrin Teller
    Department of Biology II, Ludwig Maximilians University, Grosshadernerstrasse 2, 82152 Planegg Martinsried, Germany
    Proc Natl Acad Sci U S A 104:14970-5. 2007
    ....
  51. ncbi request reprint Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome
    Eva Wey
    Institute of Medical Genetics, University of Zurich, Switzerland
    Eur J Hum Genet 13:273-7. 2005
    ..Apart from a rather normal facial appearance, the proband has typical features of PWS...
  52. ncbi request reprint Problems in detecting mosaic DNA methylation in Angelman syndrome
    Bernhard Horsthemke
    Eur J Hum Genet 11:913-5. 2003
  53. pmc Intracytoplasmic sperm injection may increase the risk of imprinting defects
    Gerald F Cox
    Children s Hospital, Boston, MA 02115, USA
    Am J Hum Genet 71:162-4. 2002
    ..We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo...
  54. ncbi request reprint Rhythm is not enough
    Bernhard Horsthemke
    Nat Genet 39:1190-1. 2007
  55. ncbi request reprint Computer-based recognition of dysmorphic faces
    Hartmut S Loos
    Institut fur Neuroinformatik, Ruhr Universitat Bochum, Germany
    Eur J Hum Genet 11:555-60. 2003
    ..Our results prove that certain syndromes are associated with a specific facial pattern and that this pattern can be described in mathematical terms...
  56. ncbi request reprint Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei
    Joachim Rauch
    Kirchhoff Institute of Physics, University of Heidelberg, Im Neuenheimer Feld 227, D 69120 Heidelberg, Germany
    Differentiation 76:66-82. 2008
    ..The possibilities to achieve this goal are discussed...
  57. ncbi request reprint Heritable germline epimutations in humans
    Bernhard Horsthemke
    Nat Genet 39:573-4; author reply 575-6. 2007
  58. ncbi request reprint Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:442-52. 2006
    ..In silico analysis of breakpoint regions revealed the presence of highly identical low-copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation...